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Related Experiment Video

Updated: Jul 7, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

[Papillon-Lefevre syndrome: a case report].

Chong-Tao Lin1, Yong-Hua Ai, Ying Chen

  • 1Dept of Periodontology, Stomatological Hospital of Jilin University, Changchun 130041, China.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology
|March 1, 2008
PubMed
Summary
This summary is machine-generated.

Papillon-Lefevre syndrome (PLS) is a rare genetic disorder causing palmoplantar keratoderma and early tooth loss. This case study details a patient with classic symptoms and reviews existing literature on this autosomal recessive condition.

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Last Updated: Jul 7, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Area of Science:

  • Genetics
  • Dermatology
  • Oral Medicine

Background:

  • Papillon-Lefevre syndrome (PLS) is an extremely rare autosomal recessive disorder.
  • Characterized by diffuse palmoplantar keratoderma and premature loss of teeth.

Purpose of the Study:

  • To describe a case of Papillon-Lefevre syndrome with classic clinical features.
  • To review the relevant literature on PLS.

Main Methods:

  • Case report.
  • Literature review.

Main Results:

  • The described case presented with the classic clinical manifestations of PLS.
  • Literature review highlights the key diagnostic and management aspects of PLS.

Conclusions:

  • PLS is a distinct genetic condition requiring early diagnosis.
  • Further research may elucidate underlying mechanisms and therapeutic targets.